Disappearing Shoulder

Chelsea Richardson, MS, ATC, OTC Dr. Spero Karas – Attending Dr. Huai Ming Phen – PGY3 Shoulder Anatomy HPI – 1/14/2020

• 42 yr. old right hand dominant male comes to clinic for left shoulder pain (4/10) • Prior history • Fall from ceiling directly onto left shoulder treated without medical expertise - 10 years ago • Two left forearm fractures, s/p fixation, with resultant ulnar border and progressive left upper extremity numbness • No significant past medical history • Progressive loss of ; No physical therapy or injections • Denies infective symptoms such as chills, malaise. No acute episodes of pain

**Of note, we needed an interpreter to speak with the patient Exam • Inspection: Large effusion • Palpation: Palpable crepitus through passive range of motion of shoulder • ROM • Flexion: Cannot actively flex past 5 degrees; Full flexion passively, with palpable flail shoulder Abduction: Cannot abduct past 5-10 degrees Internal rotation at neutral: Normal External rotation at neutral: 10 Internal rotation in abduction: Unable to test, Full passively External rotation in abduction: Unable to test, Full passively • Motor Strength • 3+/5 ABD, Flexion • 5/5 biceps, triceps, wrist extension • Sensation: Numb to light touch and sharp sensation over C5-8 distribution, more marked in ulnar distribution of hand. No pain with passive range of motion • Stability: Unstable • Special tests: Unable to test

**Normal Right Shoulder Exam X-Ray

January 30, 2019 MRI

February 18, 2019 Syrinx

Occipital to T3 Syrinx However, neurologist felt this was not contributing towards his pathology April 26, 2019 Gorham-Stout Disease

• AKA Vanishing Disease, Disappearing • Characterized by and the proliferation of lymphatic vessels • EXACT CAUSE UNKNOWN • become infiltrated with lymphatic vessels and are broken down and replaced by a fibrous band of connective tissue • Error in lymphatic system • Ribs, spine, pelvis, skull, clavicle, and jaw • Can potentially affect individuals of any age • Most seen in pelvic for children Gorham-Stout Syndrome (GSS)

• 16% of patients with GSS show Osteolysis of the shoulder girdle with 7.4% starting in the Humerus • If the spine is affected or Chylothorax develops, mortality rate up to 50%

200 13% Very Rare

Imaging

Patient 1: 84 year old female Conservative Patient 2: 92 year old female Conservative Patient 3: 77 year old female Reverse Shoulder Arthroplasty GSS Diagnosis

• Radiographic detection of Osteolysis • Exclusion of cellular atypia • Absence of Osteoplastic reaction • Detection of a local progressive growing lesion • Exclusion of an ulcerating growing lesion • Exclusion of a visceral concomitant disease • Positive histological proof of angiomatous dysplasia and proliferation • Exclusion of a hereditary, metabolic, neoplastic, immunologic, or infectious etiology Paget’s Disease Fibrous Dysplasia Hajdu-Cheney Syndrome Generalized Lymphatic Anomaly Winchester Syndrome Treatment Options

• There are no guidelines for the treatment of GSS • Conservative - PT • Reverse Shoulder Arthroplasty • Radiotherapy has been used in cases where surgery is not possible or in combination with surgery • Pharmaceuticals that inhibit bone resorption & formation of and lymphatic vessels • and interferon alpha 2b

**The effectiveness of these therapies are highly variable and inconsistent Our Assessment/Plan

• Severe resorption of left proximal Humeral head likely from prior proximal Humerus fracture • Pseudoparalysis, with good elbow function • Plan: Conservative Therapy, Avoid strenuous activity, No heavy labor • Surgery would expose patient to further complications and infection • Complications from surgery would exceed benefit • Patient returned to clinic on 2/4/2020 with the plan of a TSA by outside provider (Dr. Hui @ Resurgens) • Patient was referred to Dr. Gottschalk for consultation UPDATE – 3/4/2020

• CT Impression (2/26/2020) • Absent left humeral head with large surrounding heterotopic and a large ill- defined effusion. Extensive remodeling with associated sclerosis and peripheral about the glenoid. Large joint effusion with small intra-articular bodies. • Extensive/severe atrophy of the left shoulder girdle musculature predominantly involving the rotator cuff and deltoid. • Constellation of findings indicate that the etiology is probably a neuropathic joint process/syrinx with bone loss/heterotopic ossifications with denervation. • Sterility of the ill-defined fluid cannot be assessed by CT and if infection is suspected, ultrasound-guided aspiration is indicated. • Plan: Not certain that his shoulder is constructible as he would need bone grafting to his glenoid as well as an APC to the proximal Humerus with tendon transfers. Consulting Dr. Wagner for second surgical opinion.

References

• Brunner U, Rückl K, Konrads C, Rudert M, Plumhoff P. Gorham-Stout syndrome of the shoulder. SICOT J. 2016;2:25. doi:10.1051/sicotj/2016015 • Dellinger M, Garg N, Olsen B. Viewpoints on vessels and vanishing bones in Gorham–Stout disease. Bone. 2014 Jun;63:47-52. doi: 10.1016/j.bone.2014.02.011. Epub 2014 Feb 26. • Gorham-Stout Disease. (2017). Retrieved January 30, 2020, from https://rarediseases.org/rare-diseases/gorham-stout-disease/ • Lymphatic Drainage of the Upper Limb. (2018). Retrieved January 31, 2020, from https://teachmeanatomy.info/upper- limb/vessels/lymphatics/